Loss-of-function mutations in the Cx47 gene (GJA12/GJC2) lie at the basis of Pelizaeus-Merzbacher-like disease (PMLD1), an early onset, progressive dysmyelinating disorder affecting the CNS, and are also known to cause a distinct form of late onset hereditary spastic paraplegia (SPG44). The gene discussed is GJC2; the disease is Pelizaeus-Merzbacher-like disease.